| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
ROU
|
0
|
3
|
No
|
Dystonia, segmental/multifocal
Dystonia/Parkinsonism Dystonia, limb Tremor, action Bradykinesia Developmental regression Intellectual developmental disorder Developmental delay Delayed motor development Tremor (any or unspecified) Dystonia (any or unspecified) Myoclonus Lower limb dystonia Upper limb dystonia Cognitive impairment Rigidity Decreased body weight Short stature Hypotonia Postural instability Parkinsonism Show more (+18) |
Developmental delay
Myoclonus |